A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545000



Internal ID15985723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1421170..1573654hg38UCSC Ensembl
Innerchr1:1356550..1509034hg19UCSC Ensembl
Innerchr1:1346413..1498897hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38152485
hg19152485
hg18152485
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv708584
Samples
Known GenesANKRD65, ATAD3A, ATAD3B, ATAD3C, SSU72, TMEM240, TMEM88B, VWA1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545000
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer